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Molecular Testing of Brain Tumor

The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis...

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Autores principales: Park, Sung-Hye, Won, Jaekyung, Kim, Seong-Ik, Lee, Yujin, Park, Chul-Kee, Kim, Seung-Ki, Choi, Seung-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pathologists and the Korean Society for Cytopathology 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445205/
https://www.ncbi.nlm.nih.gov/pubmed/28535583
http://dx.doi.org/10.4132/jptm.2017.03.08
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author Park, Sung-Hye
Won, Jaekyung
Kim, Seong-Ik
Lee, Yujin
Park, Chul-Kee
Kim, Seung-Ki
Choi, Seung-Hong
author_facet Park, Sung-Hye
Won, Jaekyung
Kim, Seong-Ik
Lee, Yujin
Park, Chul-Kee
Kim, Seung-Ki
Choi, Seung-Hong
author_sort Park, Sung-Hye
collection PubMed
description The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53, and ATRX, oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC, FUBP1, and the promoter region of telomerase reverse transcriptase (TERTp). IDH-wildtype (primary) glioblastomas typically lack mutations in IDH, but are characterized by copy number variations of EGFR, PTEN, CDKN2A/B, PDGFRA, and NF1 as well as mutations of TERTp. High-grade pediatric gliomas differ from those of adult gliomas, consisting of mutations in H3F3A, ATRX, and DAXX, but not in IDH genes. In contrast, well-circumscribed low-grade neuroepithelial tumors in children, such as pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and ganglioglioma, often have mutations or activating rearrangements in the BRAF, FGFR1, and MYB genes. Other CNS tumors, such as ependymomas, neuronal and glioneuronal tumors, embryonal tumors, meningothelial, and other mesenchymal tumors have important genetic alterations, many of which are diagnostic, prognostic, and predictive markers and therapeutic targets. Therefore, the neuropathological evaluation of brain tumors is increasingly dependent on molecular genetic tests for proper classification, prediction of biological behavior and patient management. Identifying these gene abnormalities requires cost-effective and high-throughput testing, such as next-generation sequencing. Overall, this paper reviews the global guidelines and diagnostic algorithms for molecular genetic testing of brain tumors.
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spelling pubmed-54452052017-06-01 Molecular Testing of Brain Tumor Park, Sung-Hye Won, Jaekyung Kim, Seong-Ik Lee, Yujin Park, Chul-Kee Kim, Seung-Ki Choi, Seung-Hong J Pathol Transl Med Review The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53, and ATRX, oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC, FUBP1, and the promoter region of telomerase reverse transcriptase (TERTp). IDH-wildtype (primary) glioblastomas typically lack mutations in IDH, but are characterized by copy number variations of EGFR, PTEN, CDKN2A/B, PDGFRA, and NF1 as well as mutations of TERTp. High-grade pediatric gliomas differ from those of adult gliomas, consisting of mutations in H3F3A, ATRX, and DAXX, but not in IDH genes. In contrast, well-circumscribed low-grade neuroepithelial tumors in children, such as pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and ganglioglioma, often have mutations or activating rearrangements in the BRAF, FGFR1, and MYB genes. Other CNS tumors, such as ependymomas, neuronal and glioneuronal tumors, embryonal tumors, meningothelial, and other mesenchymal tumors have important genetic alterations, many of which are diagnostic, prognostic, and predictive markers and therapeutic targets. Therefore, the neuropathological evaluation of brain tumors is increasingly dependent on molecular genetic tests for proper classification, prediction of biological behavior and patient management. Identifying these gene abnormalities requires cost-effective and high-throughput testing, such as next-generation sequencing. Overall, this paper reviews the global guidelines and diagnostic algorithms for molecular genetic testing of brain tumors. The Korean Society of Pathologists and the Korean Society for Cytopathology 2017-05 2017-05-12 /pmc/articles/PMC5445205/ /pubmed/28535583 http://dx.doi.org/10.4132/jptm.2017.03.08 Text en © 2017 The Korean Society of Pathologists/The Korean Society for Cytopathology This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Park, Sung-Hye
Won, Jaekyung
Kim, Seong-Ik
Lee, Yujin
Park, Chul-Kee
Kim, Seung-Ki
Choi, Seung-Hong
Molecular Testing of Brain Tumor
title Molecular Testing of Brain Tumor
title_full Molecular Testing of Brain Tumor
title_fullStr Molecular Testing of Brain Tumor
title_full_unstemmed Molecular Testing of Brain Tumor
title_short Molecular Testing of Brain Tumor
title_sort molecular testing of brain tumor
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445205/
https://www.ncbi.nlm.nih.gov/pubmed/28535583
http://dx.doi.org/10.4132/jptm.2017.03.08
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